Cerebral infarction in Noonan syndrome

Robertson, Stephen; Tsang, Bobby; Aftimos, Salim

doi:10.1002/(sici)1096-8628(19970711)71:1<111::aid-ajmg20>3.0.co;2-o

Cited by 8 publications

(5 citation statements)

References 15 publications

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“…Hinnant [1995] reported a 15-year-old girl with thromboembolic infarcts and probable hypoplasia of the posterior cerebral vessels. In addition, Robertson et al [1997] reported a 10-month-old boy with no structural cerebral abnormality who suffered two episodes of cerebral infarction. There have been no reports mentioning cavernous hemangioma occurring in NS patients.…”

Section: Discussionmentioning

confidence: 99%

Noonan syndrome and cavernous hemangioma of the brain

et al. 1999

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We present two patients with multiple characteristics that occur in Noonan phenotype and cavernous hemangioma of the brain. The first patient, who had been diagnosed radiographically as having a cavernous hemangioma in the left basal ganglia at age 15 years, developed massive intracerebral hemorrhage, resulting in sudden death at home at 19 years. The second patient, who was diagnosed radiographically as having a cavernous hemangioma in the left parietal lobe at age 17 years, is being followed carefully (the patient is currently 18 years old). A review disclosed four cases of structural cerebrovascular abnormalities with or without subsequent hemorrhage. Neither these four patients nor our two patients had any severe anomalies in the heart or large vessels, which are frequently seen in patients with Noonan syndrome. Cerebrovascular abnormalities might have a significant influence on the prognosis of patients with Noonan syndrome, especially those having no severe abnormalities in the heart or large vessels.

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Section: Discussionmentioning

confidence: 99%

Noonan syndrome and cavernous hemangioma of the brain

et al. 1999

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“…Costello syndrome can cause growth failure, intellectual disability, and dysmorphic facial features in addition to other skin and musculoskeletal anomalies. There is no known association between Costello syndrome and stroke, though related disorders Noonan and Neurofibromatosis 1, which also affect the Ras signaling pathway, have been reported with stroke (Robertson et al, 1997; Rukavina et al, 2019).…”

Section: Resultsmentioning

confidence: 99%

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

Kumar

Meng

Liu

et al. 2022

American J of Med Genetics Pt A

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Stroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1%-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) in the evaluation of stroke. We retrospectively analyzed 124 individuals who received ES at the Baylor Genetics reference lab between 2012 and 2021 who had stroke as a major part of their reported phenotype. Ages ranged from 10 days to 69 years. 8.9% of the cohort received a diagnosis, including 25% of infants less than 1 year old; an additional 10.5% of the cohort received a probable diagnosis. We identified several syndromes that predispose to stroke such as COL4A1-related brain small vessel disease, homocystinuria caused by CBS mutation, POLG-related disorders, TTC19-linked mitochondrial disease, and RNASEH2A associated Aicardi-Goutieres syndrome. We also observed pathogenic variants in NSD1, PKHD1, HRAS, and ATP13A2, which are genes rarely associated with stroke. Although stroke is a complex phenotype with varying pathologies and risk factors, these results show that use of exome sequencing can be highly relevant in stroke, especially for those presenting <1 year of age.

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Section: Resultsmentioning

confidence: 99%

Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis

Kumar

Meng

Liu

et al. 2022

Preprint

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BackgroundStroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) in the evaluation of stroke.MethodsWe retrospectively analyzed 124 individuals who received ES at the Baylor Genetics reference lab between 2012 and 2021 who had stroke as a major part of their reported phenotype.ResultsAges ranged from 10 days to 69 years. 8.9% of the cohort received a diagnosis, including 25% of infants less than 1 year old; an additional 10.5% of the cohort received a probable diagnosis. We identified several syndromes that predispose to stroke such as COL4A1-related brain small vessel disease, CBS-related homocystinuria, POLG-related disorders, TTC19-related mitochondrial disease, and RNASEH2A associated Aicardi-Goutieres syndrome. We also observed pathogenic variants in NSD1, PKHD1, HRAS and ATP13A2, which are genes rarely associated with stroke.ConclusionsAlthough stroke is a complex phenotype with varying pathologies and risk factors, these results show that use of exome sequencing can be highly relevant in stroke, especially for those presenting <1 year of age.

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Cerebral infarction in Noonan syndrome

Cited by 8 publications

References 15 publications

Noonan syndrome and cavernous hemangioma of the brain

Noonan syndrome and cavernous hemangioma of the brain

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis

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